All terms in DOID

Label Id Description
diabetic cataract DOID_13328 [A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.]
hemochromatosis type 4 DOID_0111028 [A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.]
anatomical narrow angle borderline glaucoma DOID_13327 [A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.]
glioma susceptibility 5 MIM_613030
hemochromatosis type 1 DOID_0111029 [A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.]
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay DOID_0112359 [A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene.]
chronic follicular conjunctivitis DOID_13326
glioma susceptibility 6 MIM_613031
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 DOID_0112358 [A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31.]
cone-rod dystrophy 20 DOID_0111026 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.]
glioma susceptibility 7 MIM_613032
hemochromatosis type 2A DOID_0111027 [A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.]
spermatogenic failure 59 DOID_0112357 [A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1.]
glioma susceptibility 8 MIM_613033
spermatogenic failure 63 DOID_0112356 [A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2.]
cone-rod dystrophy 18 DOID_0111024 [A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.]
cone-rod dystrophy 19 DOID_0111025 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.]
spermatogenic failure 60 DOID_0112355 [A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1.]
tracheal lymphoma DOID_12001
platelet-type bleeding disorder 20 DOID_0111055 [A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.]